ClinVar Miner

List of variants studied for CHARGE syndrome; Hypogonadotropic hypogonadism 7 with or without anosmia

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00377
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00066
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00014
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg) rs370543242 0.00013
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00010
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn) rs61729605 0.00008
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178 0.00008
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00008
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg) rs373965521 0.00006
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His) rs140160399 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp) rs546414937 0.00005
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His) rs558904762 0.00005
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717 0.00005
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067 0.00004
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser) rs373711827 0.00004
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His) rs143423970 0.00004
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu) rs145267516 0.00004
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054 0.00003
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly) rs747326285 0.00003
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_012431.3(SEMA3E):c.1500+5G>A rs201772961 0.00002
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp) rs773688938 0.00002
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val) rs780025635 0.00002
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His) rs150833995 0.00002
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795 0.00001
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) rs1378507372 0.00001
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845 0.00001
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys) rs769637710 0.00001
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098 0.00001
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn) rs768606535 0.00001
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala) rs765517064 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter) rs965528935
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser) rs1027331615
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg) rs2115581814
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr) rs372156795
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys) rs1429296509
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr) rs773917768
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu) rs763045418

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